#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
ANXA7	310	hgsc.bcm.edu	37	10	75138681	75138681	+	Silent	SNP	G	G	A	rs200057519		TCGA-24-1544-01	TCGA-24-1544-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr10:75138681G>A	ENST00000372921.5	-	12	1322	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V	RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000535178.1_Silent_p.V292V	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	444					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.V444V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CACTTCGAGTGACCACAATCC	0.512																																																1	Substitution - coding silent(1)	ovary(1)	10											97.0	77.0	84.0					10																	75138681		2203	4300	6503	74808687	SO:0001819	synonymous_variant	310			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.1266C>T	10.37:g.75138681G>A			74808687	Q5F2H3|Q5T0M6|Q5T0M7	Silent	SNP	ENST00000372921.5	37	CCDS7325.1	SNP	45	Baylor																																																																																				0.512	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		Silent
ARHGAP25	9938	hgsc.bcm.edu	37	2	69053251	69053251	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1544-01	TCGA-24-1544-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr2:69053251G>T	ENST00000295381.3	+	11	2282	c.1863G>T	c.(1861-1863)gaG>gaT	p.E621D	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E614D|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E622D|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E582D|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E615D|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E315D	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	621					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.E615D(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGATGTTGAGAAGAGGAACA	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											107.0	112.0	110.0					2																	69053251		2203	4300	6503	68906755	SO:0001583	missense	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1863G>T	2.37:g.69053251G>T	ENSP00000295381:p.Glu621Asp		68906755	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		SNP	33	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.096674|5.096674	0.94197|0.94197	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T|.	0.61510|.	0.1;0.1;0.1;0.1;0.1;0.1|.	5.95|5.95	5.08|5.08	0.68730|0.68730	.|.	0.113125|.	0.64402|.	D|.	0.000008|.	T|T	0.61009|0.61009	0.2313|0.2313	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.67145|.	0.996;0.993;0.993;0.993;0.974|.	P;P;P;P;P|.	0.60789|.	0.875;0.879;0.879;0.879;0.677|.	T|T	0.58526|0.58526	-0.7621|-0.7621	10|5	0.45353|.	T|.	0.12|.	.|.	13.8121|13.8121	0.63270|0.63270	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	582;622;615;614;621|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331|.	.;.;.;.;RHG25_HUMAN|.	D|I	621;622;582;614;615;606;315|481	ENSP00000295381:E621D;ENSP00000386911:E622D;ENSP00000420583:E582D;ENSP00000386863:E614D;ENSP00000386241:E615D;ENSP00000417467:E315D|.	ENSP00000295381:E621D|.	E|R	+|+	3|2	2|0	ARHGAP25|ARHGAP25	68906755|68906755	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.990000|0.990000	0.78478|0.78478	7.196000|7.196000	0.77805|0.77805	1.527000|1.527000	0.49086|0.49086	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.512	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		Missense_Mutation
CCDC93	54520	hgsc.bcm.edu	37	2	118703104	118703104	+	Splice_Site	SNP	C	C	A	rs140512719		TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr2:118703104C>A	ENST00000376300.2	-	17	1488		c.e17+1		CCDC93_ENST00000319432.5_Splice_Site	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93									p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CAGGTACTTACGTCATGAGTC	0.517																																																1	Unknown(1)	ovary(1)	2											100.0	90.0	94.0					2																	118703104		2203	4300	6503	118419574	SO:0001630	splice_region_variant	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1350+1G>T	2.37:g.118703104C>A			118419574	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Splice_Site_SNP	SNP	ENST00000376300.2	37	CCDS2121.2	SNP	19	Baylor	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412612	0.42817	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6483	0.62294	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC93	118419574	0.963000	0.33076	0.957000	0.39632	0.024000	0.10985	2.899000	0.48679	2.941000	0.99782	0.655000	0.94253	.		0.517	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	Intron	Splice_Site_SNP
COL22A1	169044	hgsc.bcm.edu	37	8	139890548	139890548	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr8:139890548C>T	ENST00000303045.6	-	3	549	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	COL22A1_ENST00000435777.1_Missense_Mutation_p.V35I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	35					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V35I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCGTAGTGGACACTTTTGCAA	0.582										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	ovary(1)	8											31.0	19.0	23.0					8																	139890548		2203	4298	6501	139959730	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.103G>A	8.37:g.139890548C>T	ENSP00000303153:p.Val35Ile		139959730	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	SNP	17	Baylor	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249257	0.80024	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.78003	-1.14;-1.14	5.29	5.29	0.74685	.	0.000000	0.45126	D	0.000397	D	0.82360	0.5020	L	0.32530	0.975	0.50813	D	0.999892	D	0.64830	0.994	D	0.72625	0.978	T	0.80795	-0.1223	9	.	.	.	.	17.9176	0.88957	0.0:1.0:0.0:0.0	.	35	Q8NFW1	COMA1_HUMAN	I	35	ENSP00000303153:V35I;ENSP00000387655:V35I	.	V	-	1	0	COL22A1	139959730	1.000000	0.71417	0.894000	0.35097	0.844000	0.47949	5.869000	0.69613	2.442000	0.82660	0.650000	0.86243	GTC		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		Missense_Mutation
DUOX2	50506	hgsc.bcm.edu	37	15	45398834	45398834	+	Silent	SNP	G	G	A			TCGA-24-1544-01	TCGA-24-1544-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr15:45398834G>A	ENST00000603300.1	-	16	2039	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	DUOX2_ENST00000389039.6_Silent_p.L613L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	613					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.L613L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GAGAGAAGCAGACTCACTGAA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	15											99.0	98.0	98.0					15																	45398834		2198	4298	6496	43186126	SO:0001819	synonymous_variant	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1837C>T	15.37:g.45398834G>A			43186126	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	CCDS10117.1	SNP	33	Baylor																																																																																				0.537	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		Silent
Unknown	0	hgsc.bcm.edu	37	22	0	0	+	IGR	DEL	G-	G-	T			TCGA-24-1544-01	TCGA-24-1544-10	-	-	.	.	.	.	Unknown	Invalid:failed_liftOver	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr22:0delG-								None (None upstream) : None (None downstream)																							NNNNNNNNNN	0.0																																																0			22																																								42343061	SO:0001628	intergenic_variant	64800																															22.37:g.0delG-			42343060		Indel	Indel		37		Indel	48	Baylor																																																																																			0	0.000									Indel
F13A1	2162	hgsc.bcm.edu	37	6	6305671	6305671	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1544-01	TCGA-24-1544-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr6:6305671G>A	ENST00000264870.3	-	3	497	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	78					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R78C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGCCCTCTGCGGACAATCAGC	0.478																																																1	Substitution - Missense(1)	ovary(1)	6	GRCh37	CM023370	F13A1	M							271.0	212.0	232.0					6																	6305671		2203	4300	6503	6250670	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.232C>T	6.37:g.6305671G>A	ENSP00000264870:p.Arg78Cys		6250670	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	19.77	3.890227	0.72524	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.98958	-5.27;-5.27	5.48	5.48	0.80851	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	10	0.87932	D	0	.	16.8495	0.85990	0.0:0.0:1.0:0.0	.	78	P00488	F13A_HUMAN	C	78;78;116	ENSP00000264870:R78C;ENSP00000413334:R78C	ENSP00000264870:R78C	R	-	1	0	F13A1	6250670	1.000000	0.71417	0.344000	0.25628	0.772000	0.43724	7.501000	0.81600	2.572000	0.86782	0.585000	0.79938	CGC		0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		Missense_Mutation
F2	2147	hgsc.bcm.edu	37	11	46741372	46741372	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1544-01	TCGA-24-1544-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr11:46741372A>T	ENST00000311907.5	+	2	256	c.200A>T	c.(199-201)tAc>tTc	p.Y67F	F2_ENST00000530231.1_Missense_Mutation_p.Y67F	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	67	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.Y67F(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ACGTGCAGCTACGAGGAGGCC	0.672																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)											1	Substitution - Missense(1)	ovary(1)	11											67.0	48.0	55.0					11																	46741372		2200	4294	6494	46697948	SO:0001583	missense	2147			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.200A>T	11.37:g.46741372A>T	ENSP00000308541:p.Tyr67Phe		46697948	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	SNP	14	Baylor	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547714	0.86022	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	D;D;D	0.99051	-5.37;-5.37;-5.37	5.34	3.02	0.34903	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.290510	0.39020	N	0.001497	D	0.97498	0.9181	L	0.42529	1.33	0.37037	D	0.896953	B	0.28880	0.226	B	0.39876	0.312	D	0.95969	0.8968	10	0.87932	D	0	.	7.9182	0.29831	0.8327:0.0:0.1673:0.0	.	67	P00734	THRB_HUMAN	F	67;67;57	ENSP00000308541:Y67F;ENSP00000433907:Y67F;ENSP00000387413:Y57F	ENSP00000308541:Y67F	Y	+	2	0	F2	46697948	0.987000	0.35691	0.977000	0.42913	0.746000	0.42486	4.435000	0.59941	0.354000	0.24105	0.379000	0.24179	TAC		0.672	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			Missense_Mutation
FBXO28	23219	hgsc.bcm.edu	37	1	224318212	224318212	+	Silent	SNP	G	G	A			TCGA-24-1544-01	TCGA-24-1544-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr1:224318212G>A	ENST00000366862.5	+	2	349	c.306G>A	c.(304-306)ttG>ttA	p.L102L	FBXO28_ENST00000424254.2_Silent_p.L102L	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	102	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.L102L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AGAGAATGTTGAATCAGGGAT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	1											156.0	146.0	150.0					1																	224318212		2203	4300	6503	222384835	SO:0001819	synonymous_variant	23219			AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.306G>A	1.37:g.224318212G>A			222384835	E9PEM8|O75070	Silent	SNP	ENST00000366862.5	37	CCDS1539.1	SNP	45	Baylor																																																																																				0.373	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		Silent
FKBP10	60681	hgsc.bcm.edu	37	17	39977990	39977990	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1544-01	TCGA-24-1544-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr17:39977990T>G	ENST00000321562.4	+	9	1588	c.1484T>G	c.(1483-1485)tTt>tGt	p.F495C	FKBP10_ENST00000544340.1_Missense_Mutation_p.F268C	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	495					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGCTACCTGTTTGTGTGGCAC	0.622																																																0			17											147.0	129.0	135.0					17																	39977990		2203	4300	6503	37231516	SO:0001583	missense	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1484T>G	17.37:g.39977990T>G	ENSP00000317232:p.Phe495Cys		37231516	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	CCDS11409.1	SNP	64	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.5|25.5	4.649652|4.649652	0.87958|0.87958	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340|ENST00000455106	T;T|.	0.56611|.	0.45;0.45|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71426|0.71426	0.3338|0.3338	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.70757|0.70757	-0.4785|-0.4785	10|5	0.62326|.	D|.	0.03|.	-25.0246|-25.0246	15.4633|15.4633	0.75377|0.75377	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	268;495|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	C|V	383;495;495;268|299	ENSP00000317232:F495C;ENSP00000442009:F268C|.	ENSP00000269598:F383C|.	F|L	+|+	2|1	0|2	FKBP10|FKBP10	37231516|37231516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.197000|6.197000	0.72100|0.72100	2.062000|2.062000	0.61559|0.61559	0.374000|0.374000	0.22700|0.22700	TTT|TTG		0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		Missense_Mutation
FZD7	8324	hgsc.bcm.edu	37	2	202900306	202900306	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr2:202900306delC	ENST00000286201.1	+	1	997	c.936delC	c.(934-936)cgcfs	p.R312fs	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	312					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A313fs*55(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TAGAGGACCGCGCCGTGTGCG	0.642											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	ovary(1)	2											67.0	66.0	66.0					2																	202900306		2203	4300	6503	202608551	SO:0001589	frameshift_variant	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.936delC	2.37:g.202900306delC	ENSP00000286201:p.Arg312fs	2133	202608551	O94816|Q53S59|Q96B74	Frame_Shift_Del	DEL	ENST00000286201.1	37	CCDS2351.1	DEL	27	Baylor																																																																																				0.642	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		Frame_Shift_Del
HDAC6	10013	hgsc.bcm.edu	37	X	48678567	48678567	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chrX:48678567C>A	ENST00000334136.5	+	23	2420	c.2242C>A	c.(2242-2244)Ccg>Acg	p.P748T	HDAC6_ENST00000444343.2_Missense_Mutation_p.P762T|HDAC6_ENST00000376619.2_Missense_Mutation_p.P748T			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	748	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.P748T(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACGGGGGGATCCGCTGGGGGG	0.577																																					Pancreas(112;205 1675 2305 8976 15959)											1	Substitution - Missense(1)	ovary(1)	X											66.0	59.0	61.0					X																	48678567		2203	4300	6503	48563511	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2242C>A	X.37:g.48678567C>A	ENSP00000334061:p.Pro748Thr		48563511	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	SNP	30	Baylor	.	.	.	.	.	.	.	.	.	.	c	25.3	4.622287	0.87460	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72051	-0.62;-0.62;-0.62	5.25	5.25	0.73442	Histone deacetylase domain (2);	0.055422	0.64402	D	0.000001	D	0.85465	0.5703	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.97110	1.0;0.995;0.994;1.0	D	0.86577	0.1851	10	0.46703	T	0.11	-24.5302	15.0357	0.71744	0.0:1.0:0.0:0.0	.	738;111;396;748	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	T	762;748;748;748	ENSP00000398566:P762T;ENSP00000334061:P748T;ENSP00000365804:P748T	ENSP00000334061:P748T	P	+	1	0	HDAC6	48563511	1.000000	0.71417	0.916000	0.36221	0.947000	0.59692	6.809000	0.75211	2.432000	0.82394	0.597000	0.82753	CCG		0.577	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		Missense_Mutation
GSE1	23199	hgsc.bcm.edu	37	16	85667554	85667554	+	Silent	SNP	G	G	A			TCGA-24-1544-01	TCGA-24-1544-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr16:85667554G>A	ENST00000253458.7	+	2	218	c.42G>A	c.(40-42)ggG>ggA	p.G14G	GSE1_ENST00000405402.2_Intron|GSE1_ENST00000393243.1_Intron	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	14								p.G14G(1)									CTTCGCTAGGGATGCTTTCCA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	16											78.0	88.0	84.0					16																	85667554		2198	4300	6498	84225055	SO:0001819	synonymous_variant	23199			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.42G>A	16.37:g.85667554G>A			84225055	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	CCDS10952.1	SNP	41	Baylor																																																																																				0.657	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		Silent
LRRC8C	84230	hgsc.bcm.edu	37	1	90178828	90178828	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1544-01	TCGA-24-1544-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr1:90178828G>T	ENST00000370454.4	+	3	954	c.699G>T	c.(697-699)aaG>aaT	p.K233N	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	233					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K233N(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGATAAAAAGGAAGGTGAGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											67.0	70.0	69.0					1																	90178828		2203	4300	6503	89951416	SO:0001583	missense	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.699G>T	1.37:g.90178828G>T	ENSP00000359483:p.Lys233Asn		89951416	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	CCDS725.1	SNP	35	Baylor	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602444	0.46423	.	.	ENSG00000171488	ENST00000370454	T	0.30714	1.52	6.05	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	M	0.78456	2.415	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	T	0.45293	-0.9271	10	0.87932	D	0	.	8.5092	0.33206	0.2912:0.0:0.7088:0.0	.	233	Q8TDW0	LRC8C_HUMAN	N	233	ENSP00000359483:K233N	ENSP00000359483:K233N	K	+	3	2	LRRC8C	89951416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.773000	0.47686	1.575000	0.49775	0.650000	0.86243	AAG		0.448	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		Missense_Mutation
KIF14	9928	hgsc.bcm.edu	37	1	200571080	200571080	+	Missense_Mutation	SNP	C	C	T	rs147597734	byFrequency	TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr1:200571080C>T	ENST00000367350.4	-	11	2534	c.2096G>A	c.(2095-2097)cGt>cAt	p.R699H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	699	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.R699H(3)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GACTATTAAACGGGCTTGGTT	0.348													C|||	5	0.000998403	0.003	0.0014	5008	,	,		17764	0.0		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	central_nervous_system(2)|ovary(1)	1						C	HIS/ARG	6,4398	9.9+/-24.2	0,6,2196	144.0	131.0	135.0		2096	5.7	0.7	1	dbSNP_134	135	0,8598		0,0,4299	yes	missense	KIF14	NM_014875.2	29	0,6,6495	TT,TC,CC		0.0,0.1362,0.0461	probably-damaging	699/1649	200571080	6,12996	2202	4299	6501	198837703	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2096G>A	1.37:g.200571080C>T	ENSP00000356319:p.Arg699His		198837703	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	SNP	19	Baylor	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	33	5.238674	0.95240	0.001362	0.0	ENSG00000118193	ENST00000367350	T	0.76448	-1.02	5.66	5.66	0.87406	Kinesin, motor domain (3);	0.054538	0.85682	D	0.000000	D	0.90280	0.6960	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.91137	0.4942	10	0.56958	D	0.05	.	19.7376	0.96214	0.0:1.0:0.0:0.0	.	699	Q15058	KIF14_HUMAN	H	699	ENSP00000356319:R699H	ENSP00000356319:R699H	R	-	2	0	KIF14	198837703	1.000000	0.71417	0.741000	0.31004	0.903000	0.53119	7.461000	0.80834	2.657000	0.90304	0.563000	0.77884	CGT		0.348	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		Missense_Mutation
MAML1	9794	hgsc.bcm.edu	37	5	179200915	179200915	+	Silent	SNP	C	C	A			TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr5:179200915C>A	ENST00000292599.3	+	5	2351	c.2088C>A	c.(2086-2088)ccC>ccA	p.P696P	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.P696P(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCGTGCCCGGCATGAACA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	5											126.0	129.0	128.0					5																	179200915		2203	4300	6503	179133521	SO:0001819	synonymous_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2088C>A	5.37:g.179200915C>A			179133521		Silent	SNP	ENST00000292599.3	37	CCDS34315.1	SNP	23	Baylor																																																																																				0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		Silent
MAP3K15	389840	hgsc.bcm.edu	37	X	19380930	19380930	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1544-01	TCGA-24-1544-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chrX:19380930T>C	ENST00000338883.4	-	26	3604	c.3605A>G	c.(3604-3606)cAg>cGg	p.Q1202R	MAP3K15_ENST00000469203.2_Missense_Mutation_p.Q1034R|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.Q637R	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1202							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.Q677R(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGAAGATTCTGGTACTCTCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	X											129.0	128.0	128.0					X																	19380930		2202	4300	6502	19290851	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3605A>G	X.37:g.19380930T>C	ENSP00000345629:p.Gln1202Arg		19290851	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		SNP	55	Baylor	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196019	0.78902	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.74632	-0.86;-0.86;-0.85	6.02	6.02	0.97574	.	0.000000	0.64402	U	0.000001	D	0.87253	0.6131	M	0.87180	2.865	0.52099	D	0.999948	D;P	0.67145	0.996;0.847	D;B	0.65874	0.939;0.342	D	0.89234	0.3579	10	0.66056	D	0.02	.	15.4564	0.75318	0.0:0.0:0.0:1.0	.	677;1202	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	R	1202;637;1034	ENSP00000345629:Q1202R;ENSP00000352093:Q637R;ENSP00000428356:Q1034R	ENSP00000345629:Q1202R	Q	-	2	0	MAP3K15	19290851	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	6.794000	0.75135	2.034000	0.60081	0.486000	0.48141	CAG		0.328	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		Missense_Mutation
MTMR3	8897	hgsc.bcm.edu	37	22	30416522	30416522	+	Silent	SNP	C	C	T	rs147400483	byFrequency	TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr22:30416522C>T	ENST00000401950.2	+	17	3216	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C	MTMR3_ENST00000323630.5_Silent_p.C822C|MTMR3_ENST00000406629.1_Silent_p.C958C|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Silent_p.C958C|MTMR3_ENST00000351488.3_Silent_p.C958C	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	958					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.C958C(2)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATGGGCATTGCGCCAATGGGG	0.582																																																2	Substitution - coding silent(2)	ovary(2)	22						T	,,	3,4403	6.2+/-15.9	0,3,2200	77.0	66.0	70.0		2874,2874,2874	-1.8	0.6	22	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MTMR3	NM_021090.3,NM_153050.2,NM_153051.2	,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,	958/1199,958/1171,958/1162	30416522	4,13002	2203	4300	6503	28746522	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2874C>T	22.37:g.30416522C>T			28746522	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1	SNP	27	Baylor																																																																																				0.582	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		Silent
MVP	9961	hgsc.bcm.edu	37	16	29851523	29851523	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr16:29851523C>A	ENST00000357402.5	+	8	1072	c.934C>A	c.(934-936)Cca>Aca	p.P312T	MVP_ENST00000395353.1_Missense_Mutation_p.P312T|MVP_ENST00000452209.2_Missense_Mutation_p.A126D	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	312					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.P312T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TTTCCTCCAGCCAGGAGAGCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	16											44.0	45.0	45.0					16																	29851523		2197	4300	6497	29759024	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.934C>A	16.37:g.29851523C>A	ENSP00000349977:p.Pro312Thr		29759024	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	SNP	26	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.06|16.06	3.014455|3.014455	0.54468|0.54468	.|.	.|.	ENSG00000013364|ENSG00000013364	ENST00000452209|ENST00000357402;ENST00000395353	T|T;T	0.63913|0.47528	-0.07|0.84;0.84	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67627|0.67627	0.2913|0.2913	M|M	0.93939|0.93939	3.475|3.475	0.39513|0.39513	D|D	0.968393|0.968393	.|P	.|0.49253	.|0.921	.|P	.|0.47744	.|0.556	T|T	0.79276|0.79276	-0.1870|-0.1870	7|10	0.87932|0.87932	D|D	0|0	-20.8048|-20.8048	16.8849|16.8849	0.86073|0.86073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|312	.|Q14764	.|MVP_HUMAN	D|T	126|312	ENSP00000387916:A126D|ENSP00000349977:P312T;ENSP00000378760:P312T	ENSP00000387916:A126D|ENSP00000349977:P312T	A|P	+|+	2|1	0|0	MVP|MVP	29759024|29759024	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.270000|0.270000	0.26580|0.26580	6.214000|6.214000	0.72200|0.72200	2.577000|2.577000	0.86979|0.86979	0.558000|0.558000	0.71614|0.71614	GCC|CCA		0.602	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		Missense_Mutation
MYH3	4621	hgsc.bcm.edu	37	17	10535888	10535888	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr17:10535888C>A	ENST00000583535.1	-	34	4948	c.4861G>T	c.(4861-4863)Ggg>Tgg	p.G1621W	MYH3_ENST00000226209.7_Missense_Mutation_p.G1621W	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1621					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.G1621W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCAGGTCCCCCTCCATCTTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	17											214.0	210.0	211.0					17																	10535888		2203	4300	6503	10476613	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4861G>T	17.37:g.10535888C>A	ENSP00000464317:p.Gly1621Trp		10476613	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	SNP	22	Baylor	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680319	0.88542	.	.	ENSG00000109063	ENST00000226209	T	0.78481	-1.18	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.91958	0.7453	H	0.94345	3.525	0.51012	D	0.999907	D	0.56968	0.978	D	0.75020	0.985	D	0.93153	0.6551	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	1621	P11055	MYH3_HUMAN	W	1621	ENSP00000226209:G1621W	ENSP00000226209:G1621W	G	-	1	0	MYH3	10476613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.036000	0.70948	2.885000	0.99019	0.655000	0.94253	GGG		0.587	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		Missense_Mutation
NLRP12	91662	hgsc.bcm.edu	37	19	54310888	54310888	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1544-01	TCGA-24-1544-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr19:54310888T>C	ENST00000324134.6	-	4	2272	c.2104A>G	c.(2104-2106)Agt>Ggt	p.S702G	NLRP12_ENST00000391773.1_Missense_Mutation_p.S703G|NLRP12_ENST00000535162.1_Missense_Mutation_p.S702G|NLRP12_ENST00000345770.5_Missense_Mutation_p.S703G|NLRP12_ENST00000391775.3_Missense_Mutation_p.S702G|NLRP12_ENST00000391772.1_Missense_Mutation_p.S703G|NLRP12_ENST00000354278.3_Missense_Mutation_p.S702G|NLRP12_ENST00000351894.4_Missense_Mutation_p.S702G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	702					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.S702G(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGATGTTCACTGTAGGCGTCC	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											106.0	89.0	95.0					19																	54310888		2203	4300	6503	59002700	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2104A>G	19.37:g.54310888T>C	ENSP00000319377:p.Ser702Gly		59002700	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	SNP	55	Baylor	.	.	.	.	.	.	.	.	.	.	T	12.23	1.875521	0.33162	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	3.56	2.4	0.29515	.	0.180201	0.26812	U	0.022365	D	0.88880	0.6557	M	0.63428	1.95	0.80722	D	1	P;P;P;P	0.51351	0.944;0.792;0.856;0.902	P;B;B;P	0.47573	0.48;0.444;0.2;0.55	D	0.84336	0.0524	10	0.13470	T	0.59	.	5.4553	0.16588	0.2495:0.0:0.0:0.7505	.	703;702;702;702	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	G	702;702;702;702;702;703;703;703	ENSP00000319377:S702G;ENSP00000438030:S702G;ENSP00000340473:S702G;ENSP00000346231:S702G;ENSP00000375655:S702G;ENSP00000375653:S703G;ENSP00000375652:S703G	ENSP00000319377:S702G	S	-	1	0	NLRP12	59002700	0.987000	0.35691	0.755000	0.31263	0.150000	0.21749	1.095000	0.30964	1.600000	0.50102	0.397000	0.26171	AGT		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		Missense_Mutation
PHIP	55023	hgsc.bcm.edu	37	6	79655099	79655099	+	Silent	SNP	T	T	C	rs199510464		TCGA-24-1544-01	TCGA-24-1544-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr6:79655099T>C	ENST00000275034.4	-	39	4913	c.4746A>G	c.(4744-4746)gaA>gaG	p.E1582E	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1582					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.E1582E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGACTGGCTTTTCCTTTTCCA	0.388													T|||	1	0.000199681	0.0	0.0	5008	,	,		16726	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	6											225.0	211.0	216.0					6																	79655099		2203	4300	6503	79711818	SO:0001819	synonymous_variant	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4746A>G	6.37:g.79655099T>C			79711818	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1	SNP	64	Baylor																																																																																				0.388	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			Silent
PIK3R4	30849	hgsc.bcm.edu	37	3	130425975	130425975	+	Silent	SNP	T	T	C			TCGA-24-1544-01	TCGA-24-1544-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr3:130425975T>C	ENST00000356763.3	-	11	3095	c.2538A>G	c.(2536-2538)agA>agG	p.R846R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	846					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R846R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTACATGTTTTCTGGCTATGA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	3											83.0	76.0	78.0					3																	130425975		2203	4300	6503	131908665	SO:0001819	synonymous_variant	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2538A>G	3.37:g.130425975T>C			131908665	Q2TBF4	Silent	SNP	ENST00000356763.3	37	CCDS3067.1	SNP	62	Baylor																																																																																				0.418	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		Silent
PKD1L1	168507	hgsc.bcm.edu	37	7	47852856	47852857	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-24-1544-01	TCGA-24-1544-10	AG	AG	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr7:47852856_47852857delAG	ENST00000289672.2	-	49	7258_7259	c.7208_7209delCT	c.(7207-7209)tctfs	p.S2403fs	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2403					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S2403fs*5(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATGTAGGAATAGAGTCTTCGAT	0.535																																																1	Deletion - Frameshift(1)	ovary(1)	7																																								47819382	SO:0001589	frameshift_variant	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7208_7209delCT	7.37:g.47852858_47852859delAG	ENSP00000289672:p.Ser2403fs		47819381	Q6UWK1	Frame_Shift_Del	DEL	ENST00000289672.2	37	CCDS34633.1	DEL	15	Baylor																																																																																				0.535	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		Frame_Shift_Del
SIM1	6492	hgsc.bcm.edu	37	6	100841521	100841521	+	Missense_Mutation	SNP	C	C	T	rs367796843		TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr6:100841521C>T	ENST00000369208.3	-	11	2194	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	SIM1_ENST00000262901.4_Missense_Mutation_p.R471Q			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	471	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R471Q(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGCCTCACATCGGCCTCCTTC	0.632																																																1	Substitution - Missense(1)	ovary(1)	6											70.0	69.0	69.0					6																	100841521		2203	4300	6503	100948242	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1412G>A	6.37:g.100841521C>T	ENSP00000358210:p.Arg471Gln		100948242	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	SNP	31	Baylor	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169655	0.38315	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.33216	1.42;1.42	5.78	4.92	0.64577	Single-minded, C-terminal (2);	0.152609	0.44285	D	0.000470	T	0.10035	0.0246	N	0.19112	0.55	0.41967	D	0.990738	B	0.30211	0.273	B	0.26770	0.073	T	0.06752	-1.0809	10	0.23891	T	0.37	.	16.451	0.83990	0.1325:0.8675:0.0:0.0	.	471	P81133	SIM1_HUMAN	Q	471	ENSP00000358210:R471Q;ENSP00000262901:R471Q	ENSP00000262901:R471Q	R	-	2	0	SIM1	100948242	1.000000	0.71417	0.811000	0.32455	0.097000	0.18754	5.788000	0.69020	1.462000	0.47948	-0.122000	0.15005	CGA		0.632	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		Missense_Mutation
TP53	7157	hgsc.bcm.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49.0	49.0	49.0					17																	7578403		2203	4300	6503	7519128	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	25	Baylor	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
TTC3	7267	hgsc.bcm.edu	37	21	38498393	38498393	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr21:38498393C>T	ENST00000399017.2	+	15	3994	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	TTC3_ENST00000540756.1_Missense_Mutation_p.A106V|TTC3_ENST00000355666.1_Missense_Mutation_p.A416V|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.A416V	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	416					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A416V(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCGGATGAGGCGTTGAAGGTA	0.338																																					Ovarian(38;194 1649 35661)											1	Substitution - Missense(1)	ovary(1)	21											123.0	119.0	120.0					21																	38498393		2203	4300	6503	37420263	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1247C>T	21.37:g.38498393C>T	ENSP00000381981:p.Ala416Val		37420263	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	SNP	27	Baylor	.	.	.	.	.	.	.	.	.	.	C	1.590	-0.529406	0.04112	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.42900	1.16;1.16;1.16;3.1;0.96;3.1;3.1	4.49	-0.798	0.10905	.	1.073890	0.07194	N	0.856292	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B;B	0.21147	0.052;0.002	B;B	0.10450	0.005;0.001	T	0.19910	-1.0291	10	0.25751	T	0.34	-0.0069	5.2221	0.15373	0.1366:0.5075:0.0:0.3559	.	106;416	B4DSZ9;P53804	.;TTC3_HUMAN	V	416;416;398;416;106;416;416	ENSP00000403943:A416V;ENSP00000408456:A416V;ENSP00000391891:A398V;ENSP00000347889:A416V;ENSP00000442875:A106V;ENSP00000381981:A416V;ENSP00000346791:A416V	ENSP00000346791:A416V	A	+	2	0	TTC3	37420263	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.031000	0.13710	-0.381000	0.07882	-0.797000	0.03246	GCG		0.338	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			Missense_Mutation
ZNF112	7771	hgsc.bcm.edu	37	19	44832145	44832145	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1544-01	TCGA-24-1544-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr19:44832145T>C	ENST00000337401.4	-	5	2271	c.2183A>G	c.(2182-2184)aAg>aGg	p.K728R	ZNF112_ENST00000354340.4_Missense_Mutation_p.K722R|ZNF112_ENST00000536500.1_Missense_Mutation_p.K745R	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	728					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K722R(1)									ACTGAAGCCCTTTCCACATAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	19											233.0	211.0	218.0					19																	44832145		2203	4300	6503	49523985	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2183A>G	19.37:g.44832145T>C	ENSP00000337081:p.Lys728Arg		49523985	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	SNP	56	Baylor	.	.	.	.	.	.	.	.	.	.	T	18.24	3.581050	0.65992	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.07688	3.17;3.17;3.17	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33199	N	0.005168	T	0.28001	0.0690	M	0.75884	2.315	0.34156	D	0.668127	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.971;0.987;0.971	T	0.40776	-0.9545	10	0.49607	T	0.09	-23.9688	13.9162	0.63899	0.0:0.0:0.0:1.0	.	727;745;728	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	R	728;728;722;745;727	ENSP00000337081:K728R;ENSP00000346305:K722R;ENSP00000441990:K745R	ENSP00000253426:K727R	K	-	2	0	ZNF285	49523985	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.904000	0.56325	1.994000	0.58287	0.460000	0.39030	AAG		0.433	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		Missense_Mutation
ZNF462	58499	hgsc.bcm.edu	37	9	109687141	109687141	+	Silent	SNP	C	C	T	rs144035514	byFrequency	TCGA-24-1544-01	TCGA-24-1544-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-24-1544-01	TCGA-24-1544-10	g.chr9:109687141C>T	ENST00000277225.5	+	3	1237	c.948C>T	c.(946-948)acC>acT	p.T316T	ZNF462_ENST00000457913.1_Silent_p.T316T|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	316					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T316T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCAATACTACCGTCTCCAACT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	9						C		0,4406		0,0,2203	70.0	66.0	68.0		948	0.1	0.6	9	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF462	NM_021224.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		316/2507	109687141	1,13005	2203	4300	6503	108726962	SO:0001819	synonymous_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.948C>T	9.37:g.109687141C>T			108726962	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1	SNP	23	Baylor																																																																																				0.522	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		Silent
